C2orf69 chromosome 2 open reading frame 69
Gene ID: 205327, updated on 4-Jan-2025Gene type: protein coding
Also known as: COXPD53
- See all available tests in GTR for this gene
- Go to complete Gene record for C2orf69
- Go to Variation Viewer for C2orf69 variants
Summary
Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 53 | not available |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 2q33.1
- Sequence:
- Chromosome: 2; NC_000002.12 (199911293..199928273)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C2orf69 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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